Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein. Functional experiments, including in silico analysis of the protein structure, in vitro assessment of cell surface expression, and in vitro knockdown, revealed potential mechanisms of pathogenicity of the variants, including loss of protein function and decreased neurite outgrowth. Our data indicate that appropriate expression of NTNG2 plays an important role in neurotypical development

Gender Nonconformity During Adolescence:Links with Stigma, Sexual Minority Status, and Psychosocial Outcomes

Both gender nonconformity and sexual minority status during adolescence are associated with elevated levels of victimization and harassment, experiences that have serious consequences for adolescent psychosocial outcomes. While gender nonconformity and sexual minority status reflect separate constructs, they are associated because (1) sexual minority youth report higher levels of gender nonconformity and (2) gender nonconformity is frequently used to attribute sexual minority status by others. Following from classic stigma theory, the current chapter focuses on the role of gender nonconformity in explaining variation in social exclusion and victimization among both sexual minority and sexual majority youth. Of particular interest is the potential for gender nonconformity to mediate or moderate the association between sexual minority status and individual mental health and wellbeing outcomes. Gender differences will also be discussed, focusing on differences between girls and boys in the links between sexual minority status, gender nonconformity, experiences of victimization, and negative psychosocial outcomes. Additionally, the emerging literature on conceptualizing gender nonconformity among trans and non-binary youth will be addressed. Finally, the current chapter will finish with a discussion of how and why gender nonconformity must be taken into consideration in the development of programs aimed at reducing homophobia among adolescent populations

Influence of fasting on circulating levels of alpha-tocopherol and beta-carotene. Effect of short-term supplementation

We investigated the influence of fasting on the levels of alpha-tocopherol in plasma, erythrocytes and platelets, and on plasma beta-carotene. Six apparently healthy adults were subjected to 17-h feed-fasting experiments at various days before, during and after supplementation with alpha-tocopherol (455 mg/day, 41 days) and beta-carotene (25 mg/day, 24 days). Adipose tissue alpha-tocopherol and beta-carotene were measured at regular intervals. Supplementation increased alpha-tocopherol and beta-carotene in all compartments, except for beta-carotene in adipose tissue. Discontinuation caused a rapid return to baseline, except for adipose tissue alpha-tocopherol and plasma beta-carotene. Pasting caused linear increases of free fatty acids, consistent (but small) increases of plasma alpha-tocopherol and inconsistent increases of plasma beta-carotene. There were no fasting-related changes in other compartments. We conclude that fasting is unable to increase alpha-tocopherol and beta-carotene in circulating lipoproteins and cells to a considerable extent, both at baseline levels and after short-term supplementation. Maintenance of high levels may necessitate regular high oral intakes. (C) 1998 Elsevier Science B.V. All rights reserved

Does supplementation of formula with evening primrose and fish oils augment long chain polyunsaturated fatty acid status of low birthweight infants to that of breast-fed counterparts?

We investigated whether formulae with evening primrose and fish oils raise long chain polyunsaturated fatty acids (LCPUFA) in plasma cholesterol esters (CE), erythrocytes (RSC) and platelets (PLT) to levels encountered in breast-fed infants. Low birthweight infants (less than or equal to 2500 g) received LCP1 formula (n=16; 0.31% 18:3 omega 6, 0.17% 20:5 omega 3 and 0.20% 22:6 omega 3) or LCP2 formula (n=13; 0.32% 18:3 w6, 0.34% 20:5 omega 3 and 0.43% 22:6 omega 3). Fatty acids were measured days 10+/-2, 20+/-3 and 42+/-3. The formulae raised CE, RBC and PLT 20:5 omega 3 and 22:6 omega 3 dose-dependently (